Open AccessCongenital myasthenic syndromes: Clinical and molecular report on 7 Sicilian patients
Author(s) -
Piero Pavone,
Agata Polizzi,
Maria Roberta Longo,
Katia Romano,
Michele Vecchio,
Andrea D. Praticò,
Raffaele Falsaperla
Publication year - 2013
Publication title -
journal of pediatric neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
eISSN - 1998-3948
pISSN - 1817-1745
DOI - 10.4103/1817-1745.111416
Subject(s) - medicine , ptosis , hypotonia , neuromuscular transmission , pyridostigmine , repetitive nerve stimulation , neuromuscular junction , congenital myasthenic syndrome , weakness , acetylcholine receptor , myasthenia gravis , muscle weakness , pediatrics , neuroscience , ophthalmology , surgery , receptor , biology
Congenital myasthenic syndromes (CMS) are a heterogeneous group of diseases involving neuromuscular transmission. The classification of these syndromes is based on the localization of the defect (pre-synaptic, post-synaptic, and neuromuscular junction) and on the molecular analysis.